Published in Nucleic Acids Res on January 01, 1997
Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B. Am J Hum Genet (1999) 1.86
Haemophilia B: database of point mutations and short additions and deletions--eighth edition. Nucleic Acids Res (1998) 1.54
Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry (1985) 11.80
Key residues involved in calcium-binding motifs in EGF-like domains. Nature (1991) 1.68
X-ray structure of clotting factor IXa: active site and module structure related to Xase activity and hemophilia B. Proc Natl Acad Sci U S A (1995) 1.58
Haemophilia B (sixth edition): a database of point mutations and short additions and deletions. Nucleic Acids Res (1996) 1.44
A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B. Br J Haematol (1990) 1.29
Haemophilia B: database of point mutations and short additions and deletions--second edition. Nucleic Acids Res (1991) 1.29
Human factor IX has a tetrasaccharide O-glycosidically linked to serine 61 through the fucose residue. J Biol Chem (1992) 1.19
A new trisaccharide sugar chain linked to a serine residue in bovine blood coagulation factors VII and IX. J Biochem (1988) 1.17
First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres. Thromb Haemost (1994) 1.10
The rates of G:C-->T:A and G:C-->C:G transversions at CpG dinucleotides in the human factor IX gene. Am J Hum Genet (1994) 1.07
Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation. Nat Genet (1993) 1.03
Transcriptional regulation of the human factor IX promoter by the orphan receptor superfamily factor, HNF4, ARP1 and COUP/Ear3. Br J Haematol (1996) 1.01
Activation peptide of human factor IX has oligosaccharides O-glycosidically linked to threonine residues at 159 and 169. Biochemistry (1994) 1.00
Molecular biology of the hemophilias. Prog Hemost Thromb (1991) 0.97
Comparative sequence analysis of mammalian factor IX promoters. Nucleic Acids Res (1990) 0.97
The hemophilias. Adv Genet (1995) 0.87
Glutamate panorama. Science (1992) 0.87
3' non-coding region sequences in eukaryotic messenger RNA. Nature (1976) 39.12
A two-dimensional fractionation procedure for radioactive nucleotides. J Mol Biol (1965) 20.83
Chromatography of 32P-labelled oligonucleotides on thin layers of DEAE-cellulose. Eur J Biochem (1969) 15.21
The antigenic structure of the influenza virus A/PR/8/34 hemagglutinin (H1 subtype). Cell (1982) 12.44
The "megaprimer" method of site-directed mutagenesis. Biotechniques (1990) 11.92
Rescue of influenza A virus from recombinant DNA. J Virol (1999) 11.54
A possible precursor of immunoglobulin light chains. Nat New Biol (1972) 11.03
New rapid gel sequencing method for RNA. Nature (1977) 9.56
Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature (1994) 9.06
Genomic amplification with transcript sequencing. Science (1988) 7.52
Sequence of chicken ovalbumin mRNA. Nature (1978) 6.73
Shedding light on PCR contamination. Nature (1990) 6.49
The sequence of 5 s ribosomal ribonucleic acid. J Mol Biol (1968) 6.47
Genotype relative risks: methods for design and analysis of candidate-gene association studies. Am J Hum Genet (1993) 6.02
The nucleotide sequence of oocyte 5S DNA in Xenopus laevis. II. The GC-rich region. Cell (1978) 5.87
Increased risk of venous thrombosis in oral-contraceptive users who are carriers of factor V Leiden mutation. Lancet (1994) 5.45
Guidelines for the management of hemophilia. Haemophilia (2012) 5.16
Nucleotide sequence of the haemagglutinin gene of a human influenza virus H1 subtype. Nature (1981) 4.86
Rapid gel sequencing of RNA by primed synthesis with reverse transcriptase. J Mol Biol (1977) 4.72
Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity. Science (1989) 4.48
Sequence at the 3' end of globin mRNA shows homology with immunoglobulin light chain mRNA. Nature (1974) 4.24
Hyperhomocysteinemia as a risk factor for deep-vein thrombosis. N Engl J Med (1996) 4.11
The gene structure of human anti-haemophilic factor IX. EMBO J (1984) 4.09
The sequence of the nucleoprotein gene of human influenza A virus, strain A/NT/60/68. Nucleic Acids Res (1982) 3.99
Cytotoxic T cell recognition of the influenza nucleoprotein and hemagglutinin expressed in transfected mouse L cells. Cell (1984) 3.97
Comparison of statistics for candidate-gene association studies using cases and parents. Am J Hum Genet (1994) 3.86
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet (1998) 3.82
The influenza virus panhandle is involved in the initiation of transcription. J Virol (1994) 3.56
Structure of the neuraminidase gene in human influenza virus A/PR/8/34. Nature (1981) 3.56
Formamide can dramatically improve the specificity of PCR. Nucleic Acids Res (1990) 3.38
The antigenicity and evolution of influenza H1 haemagglutinin, from 1950-1957 and 1977-1983: two pathways from one gene. Virology (1986) 3.34
Nucleotide sequence homology at 12 intron--exon junctions in the chick ovalbumin gene. Nature (1978) 3.30
DNA analysis in the diagnosis of hemoglobin disorders. Methods Enzymol (1981) 3.15
Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression. Proc Natl Acad Sci U S A (1988) 3.11
Nucleotide sequences from the low molecular weight ribosomal RNA of Escherichia coli. J Mol Biol (1967) 3.06
Regulation of myc gene expression in HL-60 leukaemia cells by a vitamin D metabolite. Nature (1984) 3.06
Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin. Nature (1981) 2.97
High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance) Blood (1995) 2.96
Superkiller mutations in Saccharomyces cerevisiae suppress exclusion of M2 double-stranded RNA by L-A-HN and confer cold sensitivity in the presence of M and L-A-HN. Mol Cell Biol (1984) 2.88
A new method for reconstituting influenza polymerase and RNA in vitro: a study of the promoter elements for cRNA and vRNA synthesis in vitro and viral rescue in vivo. Virology (1992) 2.85
The generation of radiolabeled DNA and RNA probes with polymerase chain reaction. Anal Biochem (1989) 2.83
Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients. Mol Psychiatry (2005) 2.78
Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am J Hum Genet (1999) 2.77
AUG is the only recognisable signal sequence in the 5' non-coding regions of eukaryotic mRNA. Nature (1978) 2.76
Yeast KRE genes provide evidence for a pathway of cell wall beta-glucan assembly. J Cell Biol (1990) 2.74
Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest (1998) 2.68
General method for amplifying regions of very high G+C content. Nucleic Acids Res (1993) 2.68
Complete nucleotide sequence of the chicken chromosomal ovalbumin gene and its biological significance. Biochemistry (1981) 2.67
Direct detection of point mutations by mismatch analysis: application to haemophilia B. Nucleic Acids Res (1989) 2.64
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum Mol Genet (2000) 2.63
Triplicated alpha-globin loci in humans. Proc Natl Acad Sci U S A (1980) 2.61
Gene deletions in patients with haemophilia B and anti-factor IX antibodies. Nature (1983) 2.59
Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase. Nucleic Acids Res (1986) 2.56
Characterization of the RNA-fork model of virion RNA in the initiation of transcription in influenza A virus. J Virol (1995) 2.52
Molecular cloning of the gene for human anti-haemophilic factor IX. Nature (1982) 2.50
Laron dwarfism and mutations of the growth hormone-receptor gene. N Engl J Med (1989) 2.45
Cytotoxic T lymphocytes recognize influenza haemagglutinin that lacks a signal sequence. Nature (1987) 2.44
Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG. Am J Hum Genet (1989) 2.42
Antigenicity and evolution amongst recent influenza viruses of H1N1 subtype. Nucleic Acids Res (1983) 2.41
The use of synthetic oligodeoxynucleotide primers in cloning and sequencing segment of 8 influenza virus (A/PR/8/34). Nucleic Acids Res (1981) 2.40
Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase-complex. Thromb Haemost (2000) 2.34
Nucleotide sequence of 5S-ribosomal RNA from Escherichia coli. Nature (1967) 2.30
The 3' terminal sequence of chicken ovalbumin messenger RNA and its comparison with other messenger RNA molecules. J Mol Biol (1976) 2.29
Genotypic detection of Mycobacterium tuberculosis rifampin resistance: comparison of single-strand conformation polymorphism and dideoxy fingerprinting. J Clin Microbiol (1995) 2.26
Sequence analysis of immunoglobulin light chain messenger RNA. Nature (1974) 2.22
Parameters affecting the yield of DNA from human blood. Anal Biochem (1987) 2.20
Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics (1998) 2.19
Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP. Nucleic Acids Res (1992) 2.19
Photochemical cross-linking of influenza A polymerase to its virion RNA promoter defines a polymerase binding site at residues 9 to 12 of the promoter. J Gen Virol (1993) 2.17
Factor V Leiden (resistance to activated protein C) increases the risk of myocardial infarction in young women. Blood (1997) 2.15
High plasma concentration of factor VIIIc is a major risk factor for venous thromboembolism. Thromb Haemost (2000) 2.15
Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. Proc Natl Acad Sci U S A (1998) 2.15
The molecular epidemiology of p53 gene mutations in human breast cancer. Trends Genet (1997) 2.14
Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology (2001) 2.13
Yeast L dsRNA consists of at least three distinct RNAs; evidence that the non-Mendelian genes [HOK], [NEX] and [EXL] are on one of these dsRNAs. Cell (1982) 2.12
A new method for the size estimation of the RNA genome segments of influenza virus. Nucleic Acids Res (1979) 2.12
Protein C deficiency in a controlled series of unselected outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden Thrombophilia Study) Blood (1995) 2.09
Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency). Lancet (1984) 2.08
Missense mutations at ALA-10 in the factor IX propeptide: an insignificant variant in normal life but a decisive cause of bleeding during oral anticoagulant therapy. Br J Haematol (1997) 2.08
Sequence of 6S RNA of E. coli. Nat New Biol (1971) 2.06
Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA. J Biol Chem (1986) 2.05
Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis. Hum Genet (1990) 2.05
Orthomyxovirus replication, transcription, and polyadenylation. Curr Top Microbiol Immunol (2004) 2.04
Direct evidence that the poly(A) tail of influenza A virus mRNA is synthesized by reiterative copying of a U track in the virion RNA template. J Virol (1999) 2.01
Specific amplification with PCR of a refractory segment of genomic DNA. Nucleic Acids Res (1988) 2.00
Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms. Nucleic Acids Res (1984) 2.00
The influenza virus haemagglutinin gene: cloning and characterisation of a double-stranded DNA copy. Nucleic Acids Res (1979) 1.98
Chinese Hemophilia Joint Health Score 2.1 reliability study. Haemophilia (2013) 1.98
The yeast KRE5 gene encodes a probable endoplasmic reticulum protein required for (1----6)-beta-D-glucan synthesis and normal cell growth. Mol Cell Biol (1990) 1.96
Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect. Lancet (1993) 1.96
Novel association approach for determining the genetic predisposition to schizophrenia: case-control resource and testing of a candidate gene. Am J Med Genet (1993) 1.95
Delineation of genetic predisposition to multifactorial disease: a general approach on the threshold of feasibility. Genomics (1992) 1.95
HLA-DR and -DQ phenotypes in inflammatory bowel disease: a meta-analysis. Gut (1999) 1.94
Evaluation of the cytokines interleukin 8 and epithelial neutrophil activating peptide 78 as indicators of inflammation in prostatic secretions. Urology (2000) 1.92
Post-neonatal health and development of children born after assisted reproduction: a systematic review of controlled studies. Eur J Obstet Gynecol Reprod Biol (2006) 1.92
The complete sequence of RNA segment 2 of influenza A/NT/60/68 P1 protein. Nucleic Acids Res (1982) 1.92
Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B. Am J Hum Genet (1999) 1.86
The structure of a Ca(2+)-binding epidermal growth factor-like domain: its role in protein-protein interactions. Cell (1995) 1.84
Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4. Cell (1986) 1.82